Causes

ALD is caused by an inherited defective gene.

In people with ALD, the body cannot properly break down fatty acids. This results in a build up of saturated fatty acids in the brain and the adrenal cortex. This causes damage of the myelin sheath in the brain and the adrenal gland.

Risk Factors

This condition is most common in males, although females may also be affected. It is also more common in children and young adults. Having a mother who carries the defective X-linked ALD gene may increase your risk.

Symptoms

Symptoms can vary within the types of ALD.

X-linked ALD (Childhood Cerebral ALD)

This form is the most severe. It only affects boys. Symptoms usually begin between 2–10 years of age. About 35% of patients can have severe symptoms during the early phase. On average, death results in two years. Some patients may live a couple of decades.

Initial symptoms include:

Behavioral changes

Poor memory

A slowing down of thought processes and physical activity

Developmental regression

As the disease progresses, more serious symptoms develop. These include:

Vision loss

Seizures

Hearing loss

Difficulty swallowing and speaking

Difficulty with walking and coordination

Vomiting

Fatigue

Increased pigmentation of the skin, due to adrenal hormone deficiency—
Addison’s disease

Progressive dementia

Vegetative state or death

X-linked ALD (Adolescent Cerebral ALD)

This type is similar to the childhood type. It begins around 11-21 years of age. The progression is usually slower.

Adrenomyeloneuropathy (AMN)

This is the most common form. Symptoms of AMN can present in the 20s. It progresses slowly. They can include:

X-linked ALD (Adult Cerebral ALD)

With this type, symptoms usually do not appear until young adulthood (20s) or middle age (50s). It causes symptoms similar to
schizophrenia
and
dementia
. It usually progresses quickly. Death or a vegetative state can occur in 3-4 years.

Symptomatic Heterozygotes

This form is only seen in women. Symptoms may be mild or severe. It usually does not affect the adrenal gland function.

Diagnosis

You will be asked about your symptoms and medical history. A physical exam will be done.

Your bodily fluids may be tested. This can be done with:

Blood tests

Genetic testing

Images may be taken of your brain. This can be done with an
MRI scan
.

Treatment

There is no known cure for the brain damage of ALD. However, the adrenal deficiency can be treated with cortisone replacement. ALD often causes death within 10 years of the onset of symptoms.

Some therapies can help manage the symptoms of ALD.
These include:

Physical therapy

Psychological therapy

Special education for children

There are also some experimental treatments.
Some treatments that are still being investigated that you may want to talk to your doctor about include:

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.